title: Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.
authors.affiliation: Human Genome Center, The Institute of Medical Science, The University of Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Sato
authors.forename: K
authors.initials: K
authors.lastname: Kamino
authors.forename: T
authors.initials: T
authors.lastname: Miki
authors.forename: A
authors.initials: A
authors.lastname: Doi
authors.forename: K
authors.initials: K
authors.lastname: Ii
authors.forename: P H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: T
authors.initials: T
authors.lastname: Ogihara
authors.forename: Y
authors.initials: Y
authors.lastname: Sakaki
mesh_terms: D017668:Age of Onset; D017398:Alternative Splicing / Q000235:genetics*; D000544:Alzheimer Disease / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D053764:Presenilin-1
chemical_list: D018076:DNA, Complementary; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D004247:DNA